ID   GM01240
AC   CVCL_H971
SY   GM-1240; GM 1240; GM01240A
DR   CLO; CLO_0030276
DR   BioSample; SAMN00803748
DR   Coriell; GM01240
DR   Wikidata; Q54836727
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=7313555;
RX   PubMed=8945471;
CC   Part of: R-W pedigree MODY cell line collection.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:5024; HNF4A; Simple; p.Gln277Ter (c.829C>T) (Q268*); ClinVar=VCV000009210; Zygosity=Heterozygous (PubMed=8945471).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129744; Hepatocyte nuclear factor 4-alpha associated monogenic diabetes
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_H970 ! GM01122
SX   Female
AG   33Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 20
//
RX   PubMed=8945471; DOI=10.1038/384458a0;
RA   Yamagata, Kazuya
RA   Furuta, Hiroto
RA   Oda, Naohisa
RA   Kaisaki, Pamela J.
RA   Menzel, Stefan
RA   Cox, Nancy Jean
RA   Fajans, Stefan S.
RA   Signorini, Stefano
RA   Stoffel, Markus
RA   Bell, Graeme I.
RT   "Mutations in the hepatocyte nuclear factor-4alpha gene in
RT   maturity-onset diabetes of the young (MODY1).";
RL   Nature 384:458-460(1996).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=7313555; DOI=10.1111/j.1365-3083.1981.tb00178.x;
RA   Simmons, James G.
RA   Fuller, C. Randall
RA   Buchanan, Philip D.
RA   Yount, William J.
RT   "Distribution of surface, cytoplasmic and secreted IgG subclasses in
RT   human lymphoblastoid cell lines and normal peripheral blood
RT   lymphocytes.";
RL   Scand. J. Immunol. 14:1-13(1981).
//